Canonical Allele Identifier: CA127292
Gene: TYRP1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.12695626C>G
GRCh37 chr9:g.12695626C>G
gnomAD v2:
9:12695626 C / G
gnomAD v3:
9:12695626 C / G
gnomAD v4:
chr9-12695626-C-G
Joint Max Group AF 0.0004255 (AFR)
Genomes Max Group AF 0.00046006 (AFR)
Exomes Max Group AF 0.00027559 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12695626C>G , CM000671.2:g.12695626C>G GRCh38
NC_000009.11:g.12695626C>G , CM000671.1:g.12695626C>G GRCh37
NC_000009.10:g.12685626C>G NCBI36
NG_011705.1:g.7241C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.497C>G MANE Select ENSP00000373570.4:p.Ser166Ter
ENST00000388918.9:c.497C>G ENSP00000373570.4:p.Ser166Ter
NM_000550.2:c.497C>G NP_000541.1:p.Ser166Ter
XR_001746372.2:n.686C>G
NM_000550.3:c.497C>G MANE Select NP_000541.1:p.Ser166Ter
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